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下一代测序鉴定双原发性和转移性恶性肿瘤的突变特征:一例报告。

Next-generation sequencing identifies the mutational signature of double primary and metastatic malignancies: A case report.

作者信息

Tang Shiying, Deng Yixiao, Yan Yinan, Bai Jie, He Huiying, Zhang Shudong, Yang Jie, Qiu Min, Tian Xiaojun

机构信息

Department of Urology, Peking University Third Hospital, Beijing, China.

YuceBio Technology Co., Ltd., Shenzhen, China.

出版信息

Curr Urol. 2025 Sep;19(5):359-362. doi: 10.1097/CU9.0000000000000251. Epub 2024 Jun 10.

Abstract

We present the case of a 59-year-old Chinese man diagnosed with stage III clear cell renal cell carcinoma who developed 2 suspicious lung lesions 5 years after follow-up. Pathological evaluation revealed 2 distinct types of cancer: lung adenocarcinoma in situ and clear cell renal carcinoma with lung metastasis. Lung tissue samples were sequenced using a panel of 1267 cancer-related genes. The analysis revealed completely different molecular profiles between the 2 lung lesions and similar clonal mutations in the superior lingular lobe and kidney. This indicates multiple metachronous primary tumors.

摘要

我们报告了一例59岁的中国男性病例,该患者被诊断为III期透明细胞肾细胞癌,随访5年后出现2个可疑的肺部病变。病理评估显示有2种不同类型的癌症:原位肺腺癌和伴有肺转移的透明细胞肾细胞癌。使用一组1267个与癌症相关的基因对肺组织样本进行测序。分析显示这2个肺部病变之间的分子谱完全不同,而上叶舌段和肾脏存在相似的克隆突变。这表明存在多个异时性原发性肿瘤。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7357/12398379/e5cd0c02fa56/curr-urol-19-359-g001.jpg

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